Linked Data
ClinVar Variation Id:
3144678
ClinVar RCV Id:
RCV004441535
dbSNP Id:
rs760738362
ExAC:
17:4802074 T / G
gnomAD v2:
17-4802074-T-G
gnomAD v3:
17-4898779-T-G
gnomAD v4:
17-4898779-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898779T>G , CM000679.2:g.4898779T>G | GRCh38 |
| NC_000017.10:g.4802074T>G , CM000679.1:g.4802074T>G | GRCh37 |
| NC_000017.9:g.4742853T>G | NCBI36 |
| NG_008029.2:g.9297A>C | |
| NG_028005.1:g.70440T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1439A>C MANE Select | ENSP00000497829.1:p.Asn480Thr | |
| ENST00000649830.1:c.*75A>C | ENSP00000496907.1:n.*75A>C | |
| ENST00000652550.1:n.1165A>C | ||
| ENST00000293780.4:c.1439A>C | ENSP00000293780.4:p.Asn480Thr | |
| ENST00000572438.1:n.1125A>C | ||
| NM_000080.3:c.1439A>C | NP_000071.1:p.Asn480Thr | |
| NM_000080.4:c.1439A>C MANE Select | NP_000071.1:p.Asn480Thr | |
| XM_017024115.1:c.1403A>C | XP_016879604.1:p.Asn468Thr |